Incidental Mutation 'IGL03142:Pkn1'
ID 410724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pkn1
Ensembl Gene ENSMUSG00000057672
Gene Name protein kinase N1
Synonyms PAK1, Stk3, Pkn, Prkcl1, F730027O18Rik, PRK1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome 8
Chromosomal Location 84393165-84425808 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84397652 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 824 (F824L)
Ref Sequence ENSEMBL: ENSMUSP00000116235 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000005616] [ENSMUST00000019608] [ENSMUST00000132945] [ENSMUST00000144258]
AlphaFold P70268
Predicted Effect probably benign
Transcript: ENSMUST00000005616
AA Change: F819L

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000005616
Gene: ENSMUSG00000057672
AA Change: F819L

DomainStartEndE-ValueType
low complexity region 15 30 N/A INTRINSIC
Hr1 37 101 6.74e-20 SMART
Hr1 126 194 1.13e-21 SMART
Hr1 216 284 7.79e-25 SMART
C2 328 464 2.45e-1 SMART
low complexity region 569 601 N/A INTRINSIC
S_TKc 619 878 2.83e-96 SMART
S_TK_X 879 943 5.29e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000019608
SMART Domains Protein: ENSMUSP00000019608
Gene: ENSMUSG00000019464

DomainStartEndE-ValueType
Pfam:7tm_1 52 354 2.3e-17 PFAM
low complexity region 356 372 N/A INTRINSIC
low complexity region 392 405 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124946
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128523
Predicted Effect probably benign
Transcript: ENSMUST00000132945
SMART Domains Protein: ENSMUSP00000115054
Gene: ENSMUSG00000057672

DomainStartEndE-ValueType
low complexity region 27 42 N/A INTRINSIC
Hr1 49 113 6.74e-20 SMART
Hr1 138 206 1.13e-21 SMART
Hr1 228 296 7.79e-25 SMART
C2 340 476 2.45e-1 SMART
low complexity region 581 613 N/A INTRINSIC
Pfam:Pkinase 631 756 2.2e-23 PFAM
Pfam:Pkinase_Tyr 631 757 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138898
Predicted Effect possibly damaging
Transcript: ENSMUST00000144258
AA Change: F824L

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000116235
Gene: ENSMUSG00000057672
AA Change: F824L

DomainStartEndE-ValueType
low complexity region 20 35 N/A INTRINSIC
Hr1 42 106 6.74e-20 SMART
Hr1 131 199 1.13e-21 SMART
Hr1 221 289 7.79e-25 SMART
C2 333 469 2.45e-1 SMART
low complexity region 574 606 N/A INTRINSIC
S_TKc 624 883 2.83e-96 SMART
S_TK_X 884 948 5.29e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212519
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146057
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159935
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the protein kinase C superfamily. This kinase is activated by Rho family of small G proteins and may mediate the Rho-dependent signaling pathway. This kinase can be activated by phospholipids and by limited proteolysis. The 3-phosphoinositide dependent protein kinase-1 (PDPK1/PDK1) is reported to phosphorylate this kinase, which may mediate insulin signals to the actin cytoskeleton. The proteolytic activation of this kinase by caspase-3 or related proteases during apoptosis suggests its role in signal transduction related to apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spontaneously formed GCs and developed an autoimmune-like disease with autoantibody production and glomerulonephritis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Ccnb1 A T 13: 100,920,039 (GRCm39) D157E probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly damaging Het
Other mutations in Pkn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Pkn1 APN 8 84,407,635 (GRCm39) missense probably damaging 0.96
IGL02058:Pkn1 APN 8 84,407,854 (GRCm39) nonsense probably null
Xinjiang UTSW 8 84,419,556 (GRCm39) nonsense probably null
R0115:Pkn1 UTSW 8 84,397,658 (GRCm39) missense probably damaging 0.99
R0157:Pkn1 UTSW 8 84,419,449 (GRCm39) missense probably damaging 1.00
R0304:Pkn1 UTSW 8 84,410,236 (GRCm39) splice site probably benign
R0450:Pkn1 UTSW 8 84,398,953 (GRCm39) missense probably damaging 1.00
R0469:Pkn1 UTSW 8 84,398,953 (GRCm39) missense probably damaging 1.00
R1419:Pkn1 UTSW 8 84,400,151 (GRCm39) missense probably damaging 0.99
R1539:Pkn1 UTSW 8 84,396,966 (GRCm39) missense possibly damaging 0.49
R2025:Pkn1 UTSW 8 84,398,007 (GRCm39) missense probably damaging 1.00
R2026:Pkn1 UTSW 8 84,398,007 (GRCm39) missense probably damaging 1.00
R2027:Pkn1 UTSW 8 84,398,007 (GRCm39) missense probably damaging 1.00
R2029:Pkn1 UTSW 8 84,404,592 (GRCm39) missense possibly damaging 0.92
R2886:Pkn1 UTSW 8 84,407,867 (GRCm39) missense probably benign 0.28
R3017:Pkn1 UTSW 8 84,396,799 (GRCm39) missense probably benign 0.13
R3402:Pkn1 UTSW 8 84,396,859 (GRCm39) missense probably damaging 1.00
R4110:Pkn1 UTSW 8 84,417,828 (GRCm39) missense probably benign 0.41
R4504:Pkn1 UTSW 8 84,419,556 (GRCm39) nonsense probably null
R4739:Pkn1 UTSW 8 84,398,378 (GRCm39) missense probably damaging 0.98
R4838:Pkn1 UTSW 8 84,404,595 (GRCm39) missense probably damaging 1.00
R4857:Pkn1 UTSW 8 84,410,856 (GRCm39) splice site probably null
R5239:Pkn1 UTSW 8 84,410,811 (GRCm39) missense probably damaging 1.00
R5558:Pkn1 UTSW 8 84,411,351 (GRCm39) missense probably damaging 1.00
R5613:Pkn1 UTSW 8 84,404,390 (GRCm39) missense probably benign 0.00
R6169:Pkn1 UTSW 8 84,407,835 (GRCm39) nonsense probably null
R6172:Pkn1 UTSW 8 84,397,384 (GRCm39) missense possibly damaging 0.48
R6273:Pkn1 UTSW 8 84,398,899 (GRCm39) missense probably damaging 0.96
R6318:Pkn1 UTSW 8 84,410,220 (GRCm39) missense probably damaging 1.00
R6531:Pkn1 UTSW 8 84,396,922 (GRCm39) missense probably benign 0.09
R6969:Pkn1 UTSW 8 84,410,055 (GRCm39) missense probably damaging 1.00
R7142:Pkn1 UTSW 8 84,420,596 (GRCm39) missense possibly damaging 0.50
R7157:Pkn1 UTSW 8 84,398,363 (GRCm39) missense probably damaging 1.00
R7189:Pkn1 UTSW 8 84,419,302 (GRCm39) missense possibly damaging 0.74
R7981:Pkn1 UTSW 8 84,407,637 (GRCm39) missense probably damaging 0.99
R8876:Pkn1 UTSW 8 84,398,879 (GRCm39) missense possibly damaging 0.94
R8953:Pkn1 UTSW 8 84,410,815 (GRCm39) missense probably damaging 1.00
R9048:Pkn1 UTSW 8 84,424,663 (GRCm39) missense possibly damaging 0.91
R9374:Pkn1 UTSW 8 84,404,367 (GRCm39) missense probably benign 0.00
R9495:Pkn1 UTSW 8 84,410,799 (GRCm39) missense possibly damaging 0.95
R9549:Pkn1 UTSW 8 84,419,474 (GRCm39) missense probably damaging 1.00
Z1176:Pkn1 UTSW 8 84,400,126 (GRCm39) missense probably damaging 0.99
Posted On 2016-08-02